Canonical Allele Identifier: CA2062473094

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596459A= , CM000674.2:g.109596459A=	GRCh38
NC_000012.11:g.110034264A= , CM000674.1:g.110034264A=	GRCh37
NC_000012.10:g.108518647A=	NCBI36
NG_007702.1:g.27765A= , LRG_156:g.27765A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.230A=	ENSP00000439134.1:p.Gln77=
ENST00000546277.6:c.1073A=	ENSP00000438153.2:p.Gln358=
ENST00000636529.2:n.712A=
ENST00000697195.1:c.*837A=	ENSP00000513181.1:n.*837A=
ENST00000697196.1:c.*246A=	ENSP00000513182.1:n.*246A=
ENST00000697197.1:n.3102A=
ENST00000697198.1:n.1457A=
ENST00000228510.8:c.1073A= MANE Select	ENSP00000228510.3:p.Gln358=
ENST00000636529.1:c.698A=
ENST00000636996.1:c.921A=
ENST00000228510.7:c.1073A=	ENSP00000228510.3:p.Gln358=
ENST00000392727.7:c.917A=	ENSP00000376487.3:p.Gln306=
ENST00000447878.6:c.*520A=	ENSP00000415555.2:n.*520A=
ENST00000537237.5:c.*746A=	ENSP00000445382.1:n.*746A=
ENST00000539575.4:c.1073A=	ENSP00000443551.2:p.Gln358=
ENST00000539696.5:c.230A=	ENSP00000439134.1:p.Gln77=
ENST00000540353.1:n.3306A=
ENST00000625889.2:c.917A=	ENSP00000486846.1:p.Gln306=
ENST00000629016.2:c.*520A=	ENSP00000486804.1:n.*520A=
NM_000431.3:c.1073A=	NP_000422.1:p.Gln358=
NM_001114185.2:c.1073A=	NP_001107657.1:p.Gln358=
NM_001301182.1:c.917A=	NP_001288111.1:p.Gln306=
XM_011538372.1:c.1073A=	XP_011536674.1:p.Gln358=
XM_017019313.2:c.917A=	XP_016874802.1:p.Gln306=
XM_017019314.1:c.1073A=	XP_016874803.1:p.Gln358=
NM_000431.4:c.1073A= MANE Select	NP_000422.1:p.Gln358=
NM_001114185.3:c.1073A=	NP_001107657.1:p.Gln358=
NM_001301182.2:c.917A=	NP_001288111.1:p.Gln306=